Wilson disease - clinical findings and diagnosis in children and adolescents

Wilson disease (WD) is an uncommon autosomal recessive condition of impared hepatic copper excretion, resulting in excessive amounts of body copper. Study's aim was to reveal the clinical findings, diagnosis and treatment of WD in children. In 1987-06 the diagnosis was proved in 21 pts. (3-17y.) (10 M. and 11 F.) by clinical, laboratory (+specific), neurologic, ultrasonographic, and/or genetic and MRI investigation. Eighteen of these children were with hepatic dysfunction: fatigue (17/18), abdominal pain (16/18), jaudice (12/18), oedema (6/18), ascites (17/18), hepatomegaly (18/18); elevated aminotrasnferases (18/18), decreased prothrombin time (16/186) & serum albumin (14/18) & cholesterol (5/18). Neurologic manifestations were presented in 3 adolescents: asterixis (3/3), dysarthria (2/3), dysphagia (1/3), rigidity (1/3), choreic movement (1/3) with minimal changes in hepatic function (increased aminotransferases). Twenty of pts. had Kayser-Flaisher corneal ring. Specific examinations showed: decreased ceruloplasmin (19/21), decreased serum copper (16/21), increased urinary excretion of copper for 24h. (21/21). Test with 1.0 D penicillamine provocated the elevation of urinary excretion of copper from 10-20 times. In 15/18 pts. themutation in ATP 7B gene is proved. Ultrasound imaged portal hypertensia in 15/21 pts., ascites in 3/8, hepatomegaly in 19/21. MRI showed changes in the basal ganglia in 1 of the pts. with neurologic symptoms. In conclusion the diagnosis of WD is difficult because of the variable clinical manifestation and laboratory tests. In children and adolescents with unclear hepatic and/or neurologic symptoms copper metabolism and molecular genetic analysis should be examined.Scripta Scientifica Medica 2009; 41(2): 141-145